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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID ▼ | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0018572 | Hand, Foot and Mouth Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0011265 | Presenile dementia | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1306459 | Primary malignant neoplasm | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751780 | Biotin-Responsive Encephalopathy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0700095 | Central neuroblastoma | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0027066 | Myoclonus | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0039685 | Tetralogy of Fallot | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1168401 | Squamous cell carcinoma of the head and neck | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751776 | Atypical Inclusion-Body Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0011311 | Dengue Fever | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3714756 | Intellectual Disability | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0151744 | Myocardial Ischemia | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1306459 | Primary malignant neoplasm | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0006826 | Malignant Neoplasms | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0684249 | Carcinoma of lung | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0027651 | Neoplasms | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0024530 | Malaria | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0009402 | Colorectal Carcinoma | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0242379 | Malignant neoplasm of lung | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C2239176 | Liver carcinoma | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0027651 | Neoplasms | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029124 | Optic Atrophy | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023418 | leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
